From the Guidelines
Diagnosis of Ehlers-Danlos Syndrome
There is no specific blood test to diagnose Ehlers-Danlos syndrome.
- Diagnosis is typically made based on clinical evaluation, medical history, and physical examination, as well as genetic testing to identify mutations in genes associated with the condition, such as COL3A1, COL5A1, COL5A2, and TNXB 1.
- In some cases, skin biopsy or other specialized tests may be ordered to rule out other conditions or to assess the extent of tissue damage.
- Genetic counseling and testing should be considered for individuals with a family history of the condition, as the identification of a causal COL3A1 variant is a requirement for the diagnosis of vascular Ehlers-Danlos syndrome 1.
- The diagnosis of vascular Ehlers-Danlos syndrome is based on DNA or protein studies identifying a defect in type III collagen, encoded by the COL3A1 gene 1.
- Laboratory diagnosis may also involve demonstration of structurally abnormal collagen type III by fibroblasts, or linkage analysis with intragenic polymorphic markers 1.
From the Research
Diagnostic Tests for Ehlers-Danlos Syndrome
The diagnosis of Ehlers-Danlos syndrome (EDS) is primarily a clinical task, based on the identification of specific signs and symptoms, as well as the patient's medical history 2. Some of the key diagnostic features of EDS include:
- Joint hypermobility
- Soft and hyperextensible skin
- Abnormal wound healing
- Easy bruising
- Vascular fragility
Blood Tests for EDS
While there are no specific blood tests that can diagnose EDS, some tests may be used to rule out other conditions or to identify specific genetic mutations associated with the disorder 3, 4. For example:
- SDS-PAGE studies of type III procollagen molecules synthesis by cultured fibroblasts may be used to confirm the diagnosis of vascular EDS 4
- Genetic testing may be used to identify mutations in the COL3A1 gene, which is associated with vascular EDS 4
- Biomarkers, such as those related to collagen synthesis, may be used to help confirm the diagnosis of EDS and to monitor the patient's condition 5
Limitations of Current Diagnostic Tests
Currently, there are no specific medical or genetic therapies available for EDS, and the diagnosis is often delayed due to the lack of awareness and the similarity of EDS to other conditions 3, 6. Further research is needed to develop more effective diagnostic tests and treatments for EDS.